Charcot-Marie-Tooth disease type 4A
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Charcot-Marie-Tooth_disease
gptkb:hereditary_spastic_paraplegia autosomal recessive disease |
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
CMT4A
GDAP1-related Charcot-Marie-Tooth disease |
| gptkbp:firstDescribed |
1999
|
| gptkbp:hasGeneticCause |
GDAP1 gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 4A
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
601955
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
physical therapy
orthopedic devices supportive therapy |
| gptkbp:bfsParent |
gptkb:GDAP1
|
| gptkbp:bfsLayer |
7
|